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Study of Mendelian forms of Crohn's disease in Saudi Arabia reveals novel risk loci and alleles
  1. Nisha Patel1,
  2. Mohammad I El Mouzan2,
  3. Sulaiman M Al-Mayouf5,
  4. Nouran Adly1,
  5. Jawahir Y Mohamed1,
  6. Mohammad A Al Mofarreh3,
  7. Niema Ibrahim1,
  8. Yong Xiong4,
  9. Qi Zhao4,
  10. Khalid A Al-Saleem5,
  11. Fowzan S Alkuraya1,6
  1. 1Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
  2. 2Department of Pediatrics, College of Medicine and King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia
  3. 3Department of Gastroenterology, Al Mofarreh Polyclinics, Riyadh, Saudi Arabia
  4. 4Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, Connecticut, USA
  5. 5Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
  6. 6Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
  1. Correspondence to Fowzan S Alkuraya, Developmental Genetics Unit, King Faisal Specialist Hospital and Research Center, MBC-03 PO Box 3354, Riyadh 11211, Saudi Arabia; falkuraya{at} NP and MIEM contributed equally and considered as co-first authors.

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We read with interest the article by Uhlig on the Mendelian forms of IBD.1 Mendelian forms of Crohn's disease (CD) are rare but can establish a causal link that is not usually possible by the genome-wide association study (GWAS) design. In order to accelerate the discovery of Mendelian CD, we recruited four cooperative families in which the healthy consanguineous parents had at least two affected children with early onset CD (<10 years of age), consistent with autosomal recessive inheritance (see online supplementary figure S1). With informed consent according to an Institutional Review Board approved protocol (KFSHRC RAC# 2121053), we proceeded with autozygosity mapping using AgileMultiIdeogram ( followed by whole-exome sequencing (WES) as previously described.2 Online supplementary table S1 shows the iterative filtering of the resulting variants based on homozygosity, predicted pathogenicity, location within the autozygome and novelty.

Family 1 consists of first cousin parents, four affected and seven unaffected children. The four affected children presented with a remarkably similar clinical picture that consists of early onset IBD and severe and debilitating arthropathy. The four affected siblings shared …

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  • Contributors NP, MIEM, SMA-M, NA, JYM, YX, QZ, KAA-S and FSA: collected and analysed data and wrote the manuscript. MAAM and NI: collected and analysed data.

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval KFSHRC IRB.

  • Provenance and peer review Not commissioned; externally peer reviewed.